Open AccessPhenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease
Author(s) -
Faisal Alzahrani,
Asma Abdulrazaq Al Faris,
Layla Abdulmohsen Bashawri,
Fathelrahman Mahdi Hassan,
Omar S. ElMasry,
Maryam A. Aldossary,
Osama Sultan,
J. Francis Borgio,
Mohammed A Alsahli,
Anne Goodeve
Publication year - 2022
Publication title -
international journal of general medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.722
H-Index - 36
ISSN - 1178-7074
DOI - 10.2147/ijgm.s364818
Subject(s) - von willebrand disease , von willebrand factor , medicine , abo blood group system , genotype , exon , coagulation , immunology , partial thromboplastin time , sanger sequencing , gastroenterology , platelet , genetics , gene , biology , mutation
von Willebrand disease (VWD) is the most prevalent bleeding disease, which is associated with either low levels of von Willebrand factor (VWF) or abnormality in its structure. Three types of the disease have been described; type 1 (VWD1) and 3 (VWD3) are caused by deficiency of VWF and type 2 (VWD2) is caused by production of defective VWF. The aim of the current study was to characterize gene variants of VWF gene; exon 18 in particular, in a cohort of Saudi families as well as healthy control subjects.